Special

HsaEX0036904 @ hg38

Exon Skipping

Gene
Description
latent transforming growth factor beta binding protein 2 [Source:HGNC Symbol;Acc:HGNC:6715]
Coordinates
chr14:74511245-74522039:-
Coord C1 exon
chr14:74521911-74522039
Coord A exon
chr14:74516822-74516941
Coord C2 exon
chr14:74511245-74511364
Length
120 bp
Sequences
Splice sites
3' ss Seq
GCTTTTCTGTGTGTTCACAGATA
3' ss Score
10.98
5' ss Seq
AAGGTAAGG
5' ss Score
10.51
Exon sequences
Seq C1 exon
ATGACAACGAGTGTCTGAGGGACCCCTGCAAGGGAAAAGGGCGCTGCATCAACCGCGTGGGGTCCTACTCCTGCTTCTGCTACCCTGGCTACACTCTGGCCACCTCAGGGGCGACACAGGAGTGTCAAG
Seq A exon
ATATCAATGAGTGTGAGCAGCCAGGGGTGTGCAGCGGGGGGCAGTGCACCAACACCGAGGGCTCGTACCACTGCGAGTGTGATCAGGGCTACATCATGGTCAGGAAAGGACACTGCCAAG
Seq C2 exon
ATATCAACGAATGCCGTCACCCCGGTACCTGCCCTGATGGGAGATGCGTCAATTCCCCTGGCTCCTACACTTGTCTGGCCTGTGAGGAGGGCTACCGGGGCCAGAGTGGGAGCTGTGTAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000119681-'49-43,'49-38,50-43
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0764510=EGF_CA=WD(100=95.5),PF0764510=EGF_CA=PU(0.1=0.0)
A:
PF0764510=EGF_CA=WD(100=95.1),PF0764510=EGF_CA=PU(0.1=0.0)
C2:
PF0764510=EGF_CA=WD(100=95.1),PF0764510=EGF_CA=PU(0.1=0.0)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACAACGAGTGTCTGAGGGACC
R:
CTACACAGCTCCCACTCTGGC
Band lengths:
246-366
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development